Associated Papers
Upregulation of TLR2 in keratinocytes activates the MAPK pathway and plays a role in the pathogenesis of hidradenitis suppurativa.
Zhang H et al.
Journal of Dermatological Science, 2025
Comprehensive Catalog of Variants Potentially Associated with Hidradenitis Suppurativa, Including Newly Identified Variants from a Cohort of 100 Patients.
Muret K et al.
International Journal of Molecular Sciences, 2024
Genetic factors associated with hidradenitis suppurativa, a literature review.
Eble SM et al.
International Journal of Women's Dermatology, 2024
NCSTN In-Frame Deletion in Maltese Patients With Hidradenitis Suppurativa.
Mintoff D et al.
Jama Dermatology, 2023
A pig model carrying heterozygous point mutation of NCSTN simulates familial acne inversa and reveals dysregulated cholesterol biosynthesis via the Notch-pAMPK-HMGCR pathway.
Song R et al.
Science Bulletin, 2021
Insights from γ-Secretase: Functional Genetics of Hidradenitis Suppurativa.
Vellaichamy G et al.
The Journal of Investigative Dermatology, 2021
γ-Secretase Genetics of Hidradenitis Suppurativa: A Systematic Literature Review.
Wang Z et al.
Dermatology (basel, Switzerland), 2021
A novel nicastrin mutation in a three-generation Dutch family with hidradenitis suppurativa: a search for functional significance.
Vossen ARJV et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2020
Novel Mutation of the NCSTN Gene Identified in a Chinese Acne Inversa Family.
Wu J et al.
Annals of Dermatology, 2020
A gene dysfunction module reveals the underlying pathogenesis of hidradenitis suppurativa: An update.
Li X et al.
The Australasian Journal of Dermatology, 2020
Inter-rater reliability of phenotypes and exploratory genotype-phenotype analysis in inherited hidradenitis suppurativa.
Frew JW et al.
The British Journal of Dermatology, 2019
Analysis of hidradenitis suppurativa-linked mutations in four genes and the effects of PSEN1-P242LfsX11 on cytokine and chemokine expression in macrophages.
Li A et al.
Human Molecular Genetics, 2019
In silico Analysis of Gamma-Secretase-Complex Mutations in Hidradenitis Suppurativa Demonstrates Disease-Specific Substrate Recognition and Cleavage Alterations.
Frew JW et al.
Frontiers in Medicine, 2019
A systematic review and critical evaluation of reported pathogenic sequence variants in hidradenitis suppurativa.
Frew JW et al.
The British Journal of Dermatology, 2017
Genetic analysis of NCSTN for potential association with hidradenitis suppurativa in familial and nonfamilial patients.
Liu M et al.
The British Journal of Dermatology, 2016
Expanding the spectrum of γ-secretase gene mutation-associated phenotypes: two novel mutations segregating with familial hidradenitis suppurativa (acne inversa) and acne conglobata.
Ratnamala U et al.
Experimental Dermatology, 2016
Two novel mutations of the NCSTN gene in Chinese familial acne inverse.
Zhang C et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2013
A novel nicastrin mutation in a large Chinese family with hidradenitis suppurativa.
Jiao T et al.
The British Journal of Dermatology, 2013
γ-Secretase mutations in hidradenitis suppurativa: new insights into disease pathogenesis.
Pink AE et al.
The Journal of Investigative Dermatology, 2013
Gamma-secretase gene mutations in familial acne inversa.
Wang B et al.
Science (new York, N.y.), 2010
An Updated Mutation Spectrum of the γ-Secretase Complex: Novel NCSTN Gene Mutation in an Indian Family with Hidradenitis Suppurativa and Acne Conglobata.
Ratnamala U et al.
Indian Journal of Dermatology, 0